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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 associated genes
No signs/symptoms info
Athabaskan brainstem dysgenesis syndrome
Semantic dementia

HOXA1 C9ORF72
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HOXA1
(0.73)
GRN



Citations in the biomedical literature:


Athabaskan brainstem dysgenesis syndrome
HOXA1
Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Athabaskan brainstem dysgenesis syndrome
Semantic dementia

Synonym(s):
- ABSD
- Athabascan brainstem dysgenesis syndrome
- Navajo brainstem syndrome

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
1 MeSH reference: C535397
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.